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NBME 20 Answers

nbme20/Block 1/Question#33

A 17-year-old girl comes to the emergency ...

Mitochondrial

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submitted by strugglebus(68),

OK, so if I remember correctly this is the one that shows the inheritance pattern. mitochondrial is also passed by the mother; however, it can have variable expressivity and incomplete penetrance, which is why some members were not affected.

hyoscyamine  Also, question said there was a deficiency in NADH dehydrogenase activity which is another fancy way of saying complex I in the mitochondria. +4  
yotsubato  That unaffected male really threw me off... : ( +4  
charcot_bouchard  It was pure MELAS description. the unaffected male threw me off +2